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Biomedical subjects

A Tal

Publications and source records attributed to A Tal.

At least 37 records · Page 2Linked to original sources
PubMed1995

Highly variable incidence of cystic fibrosis and different mutation distribution among different Jewish ethnic groups in Israel.

The incidence of cystic fibrosis (CF) and the frequency of disease-causing mutations varies among different ethnic and geographic populations. The Jewish population around the world is comprised of two major ethnic groups; Ashkenazi and non-Ashkenazi. The latter is further classified according to country of origin. In this study, we analyzed the incidence of CF and the distribution of CF mutations in the general Jewish population in Israel and in most of the Jewish ethnic subgroups. The disease frequency varies considerably among the latter. Among Ashkenazi Jews, the frequency of CF is 1:3300, which is similar to the frequency in most Caucasian populations. Among non-Ashkenazi Jews, the disease occurs at a similar frequency among Jews from Libya (1:2700), Georgia (1:2700), Greece and Bulgaria (1:2400), but is rare in Jews from Yemen (1:8800), Morocco (1:15000), Iraq (1:32000), and Iran (1:39000). So far, only 12 mutations have been identified in Israeli Jews, and this enables the identification of 91% of the CF chromosomes in the entire Jewish CF population. However, in each Jewish ethnic group, the disease is caused by a different repertoire of mutations. The frequency of identified mutations is high in Ashkenazi Jews (95%), and in Jews originating from Tunisia (100%), Libya (91%), Turkey (90%), and Georgia (88%). However, a lower frequency of mutations can be identified in Moroccan (85%), Egyptian (50%), and Yemenite (0%) Jews. For genetic counseling of a Jewish individual, it is necessary to calculate the residual risk according to ethnic origin. Carrier screening of healthy Jewish individuals is currently feasible for Ashkenazi Tunisian, Libyan, Turkish, and Georgian Jews. These results provide the required information for genetic counseling of Jewish CF families and screening programs of Jewish populations worldwide.

Africa, Northern↗
PubMed1995

Effect of prolonged use of inhaled steroids on the cellular immunity of children with asthma.

BACKGROUND: Systemic corticosteroids may affect the cellular immunity, but there is no available controlled data on such effects associated with a prolonged use of inhaled corticosteroids. OBJECTIVE: The investigation was designed to study the effect of long-term inhaled beclomethasone dipropionate in daily doses of up to 600 micrograms on cellular immune functions. METHODS: Twenty-four children with asthma treated with inhaled beclomethasone dipropionate for a mean of 22.6 months were compared with 16 children with asthma not treated with an inhaled steroid and with 20 healthy adults. Cellular immune parameters included differential white blood count, T- and B-cell numbers, T helper and suppressor counts, T-cell mitogenic transformation, and interleukin-1 and interleukin-2 secretion. RESULTS: There was no difference in any of the studied cellular immune functions among the three study groups. CONCLUSION: Long-term use of inhaled beclomethasone dipropionate by children with asthma, at daily doses of up to 600 micrograms, has no effect on certain parameters of cellular immunity.

Administration, Inhalation↗
PubMed1994

[Plasma cell granuloma of the chest and lung in childhood].

Plasma cell granuloma is a benign, non-neoplastic lesion rarely found in children. It occurs mainly in the chest and lungs, the right lung mostly. Most cases are asymptomatic and are discovered incidentally on routine chest X-ray, although there may have been atypical upper respiratory symptoms. The X-ray findings, as well as those of other imaging modalities, are nonspecific, making the exact localization and diagnosis of the lesion difficult, as demonstrated in the cases of 2 boys aged 8 and 9 years, respectively. Locating the right diaphragm and its relation to the large lesion by various imaging modalities was unreliable in 1 of the cases. The large, dense, firm, adherent lesions were carefully and completely resected in both cases. In 1 case it was located in the right lung, pulmonary hilum and mediastinum. In the other, in the right pleural space in the supradiaphragmatic region, adherent to the posterolateral aspect of the lower ribs. Biopsies for frozen section should always be taken before deciding on the extent of surgery. Radical resection of normal surrounding tissue should be avoided. Our cases have been followed for 2 and 3 years respectively, with no evidence of recurrence. Prognosis is excellent when lesions are completely removed.

Child↗
PubMed1994

Similar levels of mRNA from the W1282X and the delta F508 cystic fibrosis alleles, in nasal epithelial cells.

The effect of nonsense mutations on mRNA levels is variable. The levels of some mRNAs are not affected and truncated proteins are produced, while the levels of others are severely decreased and null phenotypes are observed. The effect on mRNA levels is important for the understanding of phenotype-genotype association. Cystic fibrosis (CF) is a lethal autosomal recessive disease with variable clinical presentation. Recently, two CF patients with mild pulmonary disease carrying nonsense mutations (R553X, W1316X) were found to have severe deficiency of mRNA. In the Jewish Ashkenazi CF patient population, 60% of the chromosomes carry a nonsense mutation, W1282X. Patients homozygous for this mutation have severe disease presentation with variable pulmonary disease. The presence of CF transcripts in a group of patients homozygous and heterozygous for this mutation was studied by reverse transcriptase PCR of various regions of the gene. Subsequent hybridization to specific CF PCR probes and densitometry analysis indicated that the CF mRNA levels in patients homozygous for the W1282X mutation are not significantly decreased by the mutation. mRNA levels were compared for patients heterozygous for the W1282X mutation. The relative levels of mRNA with the W1282X, and the delta F508 or the normal alleles, were similar in each patient. These results indicate that the severe clinical phenotype of patients carrying the W1282X mutation is not due to a severe deficiency of mRNA. In addition, the severity, progression, and variability of the pulmonary disease are affected by other, as yet unknown factors.

Alleles↗
PubMed1994

Angioedema following the intravenous administration of metoprolol.

A 72-year-old woman was admitted to the hospital with "flash" pulmonary edema, preceded by chest pain, requiring intubation. Her medical history included coronary artery disease with previous myocardial infarctions, hypertension, and diabetes mellitus. A history of angioedema secondary to lisinopril therapy was elicited. Current medications did not include angiotensin-converting enzyme inhibitors or beta-blockers. She had no previous beta-blocking drug exposure. During the first day of hospitalization (while intubated), intravenous metoprolol was given, resulting in severe angioedema. The angioedema resolved after therapy with intravenous steroids and diphenhydramine hydrochloride.

Aged↗
PubMed1993

Oral hypoglycemic agents in the treatment of type II diabetes.

The cornerstones of therapy for non-insulin-dependent diabetes mellitus are patient education, dietary modification with weight loss, and regular exercise. If diet and exercise fail to control hyperglycemia, pharmacologic intervention is warranted. The sulfonylureas are the only hypoglycemic agents approved for use in the United States. Their hypoglycemic effect is achieved through stimulation of insulin secretion and reduction of insulin resistance in the peripheral tissues. Two classes of sulfonylureas are available. First-generation drugs, such as tolbutamide and tolazamide, are less expensive and less powerful than second-generation drugs, such as glipizide and glyburide.

Administration, Oral↗
PubMed1993

Mild cystic fibrosis and normal or borderline sweat test in patients with the 3849 + 10 kb C-->T mutation.

Different mutations in the cystic fibrosis (CF) gene appear to contribute to heterogeneity of the CF phenotype. We investigated 15 patients with CF who have the 3849 + 10 kb C-->T mutation. All were Ashkenazi Jews. Their clinical features were compared with those of CF patients with the delta F508/delta F508, W1282X/W1282X, W1282X/delta F508 mutations, which are known to be associated with a severe disease. Patients with the 3849 + 10 kb mutation were older, had been diagnosed as having CF at a more advanced age, and were in a better nutritional state. Sweat chloride values were normal (below 60 mmol/L) in 5 3849 + 10 kb patients (33%). 4 of these patients and 6 others (total 66%) had normal pancreatic function. However, age-adjusted pulmonary function did not differ between the two groups. None of the patients with 3849 + 10 kb C-->T had had meconium ileus or had liver disease or diabetes mellitus. We conclude that this mutation is associated with a mild type of CF.

Age Factors↗
PubMed1993

Acoustic vs. spirometric assessment of bronchial responsiveness to methacholine in children.

To study wheezing as an indicator of bronchial responsiveness during methacholine challenge (MC) in children, we used computer analysis of respiratory sounds and compared wheeze measurements to routine spirometry. MC was performed in 30 symptomatic subjects (sympt), age 11 +/- 3.1 years (mean +/- SD), with suspected asthma and in 12 controls (contr), age 10 +/- 3.4 years. Respiratory rate (RR), spirometry, arterial oxygen saturation (SaO2), and cough were registered until the concentration provoking a > or = 20% fall in forced expiratory flow in 1 second (FEV1;PC20), or the end point (8 mg/mL) was reached. For 1 min after each inhalation, sounds over the trachea and posterior right lower lobe were recorded together with calibrated airflow. Computer analysis of respiratory sounds was used for objective wheeze quantification. Wheezing was measured as its duration relative to inspiration (Tw/Ti) and expiration (Tw/Te). Seventeen of the sympt group developed wheezing (sympt/W) with > or = 5% Tw/Ti or > or = 5% Tw/Te. Thirteen of the sympt did not wheeze (sympt/no W). Three contr developed wheeze (contr/W) while 9 did not (contr/no W). In sympt/W, RR increased from 20 +/- 6.2 per min at baseline to 25 +/- 9.2 (P < 0.05) at the MC concentration provoking wheeze (PCw), and SaO2 decreased from 97.4 +/- 1.2% to 95.3 +/- 2.4 (P < 0.05). In contr/W, RR did not change, but SaO2 decreased from 97.3 +/- 1.5% to 95.7% +/- 1.2% (P < 0.05). Wheezing occurred at both recording sites and was as common during inspiration as during expiration.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1993

Hospitalization of Jewish and Bedouin infants in southern Israel for bronchiolitis caused by respiratory syncytial virus.

We conducted a prospective study to determine the clinical picture and impact of respiratory syncytial virus (RSV) on hospitalization for acute bronchiolitis of pediatric patients less than 2 years of age belonging to two different ethnic groups in Southern Israel: Jews and Bedouins. All patients younger than 2 years of age hospitalized for bronchiolitis during a typical RSV season were enrolled. During the study period 120 patients with bronchiolitis were hospitalized, and 83 (69%) were RSV-positive. Their age ranged from 20 days to 9 months. Fifty-five percent of all patients with RSV bronchiolitis were < or = 3 months old and 92% were < or = 6 months old. Patients with RSV bronchiolitis represented 18% of all hospitalized infants < or = 9 months old and 35% of all hospitalizations for respiratory problems of infants < or = 9 months old. The yearly incidence of hospitalization for RSV bronchiolitis was 5.4/1000 live births for Jews and 18/1000 live births for Bedouins. The total number of hospitalization days calculated for 1000 births was 32.1 for the Jews and 86.7 for the Bedouins. RSV has a serious impact on infant morbidity in Southern Israel.

Acute Disease↗
PubMed1993

Multicenter study with ketotifen (Zaditen) oral drop solution in the treatment of wheezy children aged 6 months to 3 years.

One hundred and seven chronically wheezing infants, aged 6 months to 3 years, completed a double-blind placebo controlled multicenter study. After a two-week baseline period the patients were randomized into two groups receiving twice daily either ketotifen or placebo for a period of 12 weeks. The ketotifen dosage was 0.5 mg for children younger than one year and 1 mg for the older. During the 12-week treatment period the patients from the two groups demonstrated gradual improvement of the disease severity parameters, as compared with the baseline period. The amelioration was more marked in the ketotifen treated patients and during the 0-4, and 4-8 weeks of treatment a significant decrease was achieved in the percentage of days with a cough (p < 0.04) and in the number of wheezing episodes (p = 0.02). Moreover, a 50% reduction of the days and nights with cough and in the number of wheezing episodes occurred earlier in the ketotifen than in the placebo treated patients, i.e. after 1.2 vs 4.6; 4.4 vs 8.6 and 5.2 vs 7.2 weeks, respectively. It should be stressed that the amelioration of the asthmatic morbidity in the ketotifen group was achieved with a significantly reduced need for the concomitant use of bronchodilators. The principal side effects observed were weight gain and transient sedation. It is concluded that ketotifen may be effective in the amelioration of asthma associated symptomatology and acceleration in the natural tendency for improvement in chronic wheezing infants.

Asthma↗
PubMed1992

Integrated plasma cortisol concentration in children with asthma receiving long-term inhaled corticosteroids.

We assessed the effect of long-term therapy with inhaled beclomethasone dipropionate (BDP) on the pituitary-adrenal axis, by measuring the integrated concentration (IC) of plasma cortisol in eight children with asthma (age, 6-16 years) who regularly used inhaled BDP in doses ranging from 8 to 26.5 micrograms/kg (200-450 micrograms/day) for 6 months to 4 years. The control group included six children (age, 6-16 years) who had the IC of plasma cortisol measured as part of an endocrinological evaluation and were found to be healthy. Cortisol concentration was measured in blood samples collected continuously over a 24-hr period. Mean IC of plasma cortisol in the study group was significantly lower than in the healthy controls (mean +/- SD, 4.9 +/- 3.3 vs 9.1 +/- 1.9 micrograms/mL; P less than 0.02). Cortisol response to 0.25 mg ACTH (iv) was abnormal in one of the eight BDP-treated patients. No correlation was found between IC of plasma cortisol and the BDP dose, severity of asthma, height percentile, or the Tanner stage. We conclude that long-term therapy, even with relatively conventional doses of inhaled BDP may cause reduction in the normal physiological secretion of cortisol. The clinical relevance of low IC of plasma cortisol is not clear, but it may reflect partial suppression of the pituitary-adrenal axis.

Administration, Inhalation↗